Phenylketonuria in the netherlands: 93% of the mutations are detected by single-strand conformation analysis

Human Heredity

Volumn 46, Issue 4, 1996, Pages 185-190

  van der Sijs Bos, C J M ^a   Diepstraten, C M ^a   Juyn, J A ^b   Plaisier, M ^b   Giltay, J C ^a   van Spronsen, F J ^c   Smit, G P A ^c   Berger, R ^b   Smeitink, J A M ^b   Poll The, B T ^b   Ploos van Amstel, J K ^a  

^a Clinical Genetics Center Utrecht   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

Mutations; Phenylketonuria; Single strand conformation polymorphism

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CLINICAL ARTICLE; EXON; GENE MUTATION; HUMAN; HUMAN CELL; NETHERLANDS; PHENYLKETONURIA; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID METABOLISM, INBORN ERRORS; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; MUTATION; NETHERLANDS; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 8944246797     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000154351     Document Type: Article

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